rs2229532
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_001611.5(ACP5):c.661G>A(p.Val221Ile) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00645 in 1,611,542 control chromosomes in the GnomAD database, including 612 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_001611.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
ACP5 | NM_001611.5 | c.661G>A | p.Val221Ile | missense_variant | Exon 4 of 5 | ENST00000648477.1 | NP_001602.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0354 AC: 5384AN: 152100Hom.: 312 Cov.: 32
GnomAD3 exomes AF: 0.00931 AC: 2313AN: 248382Hom.: 132 AF XY: 0.00688 AC XY: 925AN XY: 134522
GnomAD4 exome AF: 0.00343 AC: 5012AN: 1459324Hom.: 299 Cov.: 33 AF XY: 0.00289 AC XY: 2096AN XY: 725980
GnomAD4 genome AF: 0.0354 AC: 5389AN: 152218Hom.: 313 Cov.: 32 AF XY: 0.0349 AC XY: 2596AN XY: 74428
ClinVar
Submissions by phenotype
not provided Benign:3
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not specified Benign:1
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Spondyloenchondrodysplasia with immune dysregulation Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at